Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: BBS1
BBS1 (Bardet-Biedl syndrome 1)
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000174483
EnsemblGeneIds (GRCh37): ENSG00000174483
OMIM: 209901, Gene2Phenotype
BBS1 is in 16 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa
- OMIM
- 209901
- Clinvar variants
- Variants in BBS1
- Penetrance
- None
- Panels with this gene
-
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Bardet Biedl syndrome
- Retinitis pigmentosa_Autosomal Recessive/X-linked
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
- Severe early-onset obesity
History Filter Activity
23 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BBS1 was added gene: BBS1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BBS1 were set to Retinitis pigmentosa